Mutation profiles of phenylketonuria in Quebec populations: Evidence of stratification and novel mutations

American Journal of Human Genetics

Volumn 55, Issue 2, 1994, Pages 321-326

  Rozen, Rima ^a,b   Mascisch, Allegra ^a   Lambert, Marie ^c   Laframboise, Rachel ^d   Scriver, Charles R ^a,b  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

^d UNIVERSITÉ LAVAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANADA; CLINICAL ARTICLE; DNA DETERMINATION; GENE MUTATION; HAPLOTYPE; HUMAN; PHENYLKETONURIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA MUTATIONAL ANALYSIS; FEMALE; FRANCE; GENE FREQUENCY; GENETICS, POPULATION; GEOGRAPHY; HAPLOTYPES; HUMANS; MALE; MUTATION; PEDIGREE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; QUEBEC; RESTRICTION MAPPING;

EID: 0028048492     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

1. Abadie V, Lyonnet S, Melle D, Berthelon M, Caillaud C, Lebrune Ph, Rey F, et al (1993) Molecular basis of phenylketonuria in France. Dev Brain Dysfunct 6:120-126
2. Bouchard G (1990) Représentations de la population et de la societé Québécoises: l'apprentissage de la diversié. Cah Québécoises Démographie 19:7-28
3. De Braekeleer M, Dionne C, Gagne C, Julien P, Brun D, Yen Murthy MR, Lupien P-J (1991) Founder effect in familial hyperchylomicronemia among French Canadians of Quebec. Hum Hered 41:168-173
4. Dockhorn-Dworniczak B, Dworniczak B, Brommelkamp L, Bulles J, Horst J, Bocker WW (1991) Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria. Nucleic Acids Res 19:2500
5. Economou-Petersen E, Henriksen KF, Guldberg P, Güttler F (1992) Molecular basis for nonphenylketonuria hyperphenylalaninemia. Genomics 14:1-5
6. Eisensmith RC, Okano Y, Dasovich M, Wang T, Güttler F, Lou H, Guldberg P, et al (1992) Multiple origins for phenylketonuria in Europe. Am J Hum Genet 51:1355-1365
7. Eisensmith RC, O'Neill C, Goltsov A, Woo SLC (1993) Independent origin for the phenylalanine hydroxlase mutation R408W in the Irish population. Am J Hum Genet Suppl 53:198.
8. Eisensmith RC, Woo SLC (1992) Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene. Hum Mutat 1:13-23
9. Guldberg P, Henriksen KF, Güttler F (1993a) Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. Genomics 17:141-146
10. Guldberg P, Romano V, Ceratto N, Bosco P, Ciuna M, Indelicato A, Mollica F, et al (1993b) Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe. Hum Mol Genet 2:1703-1707
11. Harris RC, Matthews JJ (1989) Historical atlas of Canada. I. From the beginning to 1800, University of Toronto, Toronto
12. John SWM, Rozen R, Laframboise R, Laberge C, Scriver CR (1989) Novel PKU mutation on haplotype 2 in French-Canadians. Am J Hum Genet 45:905-909
13. _ (1992a) Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from Eastern Quebec. Hum Mutat 1:72-74
14. John SWM, Rozen R, Scriver CR, Laframboise R, Laberge C (1990) Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations. Am J Hum Genet 46:970-974
15. John SWM, Scriver CR, Laframboise R, Rozen R (1992b) In vitro and in vivo correlations for 165T and M1V mutations at the phenylalanine hydroxylase locus. Hum Mutat 1:147-153
16. Konecki DS, Lichter-Konecki U (1991) The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations. Hum Genet 87:377-388
17. Lyonnet S, Caillaud C, Rey F, Berthelon M, Frézal J, Rey J, Munnich A (1989) Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. Am J Hum Genet 44:511-517
18. Lyonnet S, Melle D, De Braekeleer M, Laframboise R, Rey F, John SWM, Berthelon M, et al (1992) Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France. Am J Hum Genet 51:191-196
19. McEvedy C, Jones R (1978) Atlas of world population history. Penguin, New York
20. Okano Y, Wang T, Eisensmith RC, Güttler F, Woo SLC (1990) Recurrent mutation in the human phenylalanine hydroxylase gene. Am J Hum Genet 46:919-924
21. Pérez B, Desviat LR, Die M, Ugarte M (1992) Mutation analysis of phenylketonuria in Spain: prevalence of 2 Mediterranean mutations. Hum Genet 89:341-342
22. Rudin R (1985) The forgotten Quebecers: a history of English-speaking Quebec, 1759-1980. Institut Québécois de recherche sur la culture, Montreal
23. Scriver CR (1993) Every disease has two histories. Mem Soc R Can 4 (Ser 6): 20-32
24. Scriver CR, Hoang L, Byck S, Prevost L (1994) PAH Gene Mutation Analysis Consortium Newsletter, Montreal
25. Scriver CR, John SMW, Rozen R, Eisensmith R, Woo SLC (1993) Associations between populations, phenylketonuria mutations and RFLP haplotypes at the phenylalanine hydroxylase locus: an overview. Dev Brain Dysfunct 6:11-25
26. Scriver CR, Kaufman S, Woo SLC (1989) The hyperphenylalaninemias. In: Scriver CR, Beaudet al, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th ed. McGraw Hill, New York, pp 495-546
27. Treacy E, Byck S, Clow C, Scriver CR (1993) 'Celtic' phenylketonuria chromosomes found? evidence in two regions of Quebec province. Eur J Hum Genet 1:220-228
28. Tyfield LA, Bidwell JL, Wood NAP, Cockburn F, Harvie A (1993) PKU in Britain: identification of regional differences in mutations and their historical significance. 2d International Workshop on Phenylketonuria. Troina, Italy, November 11-13, 1993, PG 10
29. Zschocke J, Graham CA, Stewart FJ, Carson DJ, Nevin NC (1993) R408W and 165T are the common PKU mutations in Northern Ireland. 2d International Workshop on Phenylketonuria. Troina, Italy, November 11-13, 1993, PG 7